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Journal of Clinical Investigation, ISSN 0021-9738, 05/2008, Volume 118, Issue 5, pp. 1955 - 1964
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Gene Therapy, ISSN 0969-7128, 10/2008, Volume 15, Issue 19, pp. 1311 - 1320
Journal Article
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576
Journal Article
JAMA OPHTHALMOLOGY, ISSN 2168-6165, 02/2015, Volume 133, Issue 2, pp. 133 - 139
IMPORTANCE The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently... 
OPHTHALMOLOGY | MUTATIONS | RETINITIS-PIGMENTOSA | GTPASE | ABCR
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1999, Volume 64, Issue 4, pp. 1024 - 1035
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 01/2016, Volume 6, Issue 1, p. 19759
Journal Article